Canonical Allele Identifier: CA8979247
Gene: RAX HGNC NCBI

Linked Data

dbSNP Id: rs773740757
ExAC: 18:56936373 A / AGGG
gnomAD v2: 18-56936373-A-AGGG
gnomAD v3: 18-59269141-A-AGGG
gnomAD v4: 18-59269141-A-AGGG
MyVariant Identifiers: chr18:g.56936373_56936374insGGG (hg19) chr18:g.59269141_59269142insGGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269142_59269144dup , CM000680.2:g.59269142_59269144dup GRCh38
NC_000018.9:g.56936374_56936376dup , CM000680.1:g.56936374_56936376dup GRCh37
NC_000018.8:g.55087354_55087356dup NCBI36
NG_013031.1:g.9250_9252dup

Transcript Alleles

HGVS Amino-acid change
ENST00000334889.4:c.901_903dup MANE Select ENSP00000334813.3:p.Pro301_Ser302insPro
ENST00000256852.7:c.*332_*334dup ENSP00000256852.7:n.*332_*334dup
ENST00000334889.3:c.901_903dup ENSP00000334813.3:p.Pro301_Ser302insPro
NM_013435.2:c.901_903dup NP_038463.2:p.Pro301_Ser302insPro
NM_013435.3:c.901_903dup MANE Select NP_038463.2:p.Pro301_Ser302insPro
Search 100 bp 5'
Search 100 bp 3'